title: Type 4 renal tubular acidosis (subtype 2) in a patient with methylmalonic acidaemia.
abstract: A 10-month-old male infant with vitamin B12 non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.
authors.affiliation: Department of Paediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ohura
authors.forename: M
authors.initials: M
authors.lastname: Kikuchi
authors.forename: D
authors.initials: D
authors.lastname: Abukawa
authors.forename: H
authors.initials: H
authors.lastname: Hanamizu
authors.forename: J
authors.initials: J
authors.lastname: Aikawa
authors.forename: K
authors.initials: K
authors.lastname: Narisawa
authors.forename: K
authors.initials: K
authors.lastname: Tada
authors.forename: H
authors.initials: H
authors.lastname: Yunoki
mesh_terms: D000141:Acidosis, Renal Tubular / Q000097:blood* / Q000209:etiology / Q000473:pathology; D000450:Aldosterone / Q000097:blood; D001706:Biopsy; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000150:complications; D007668:Kidney / Q000473:pathology; D007677:Kidney Function Tests; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood*; D012083:Renin / Q000097:blood
chemical_list: D000450:Aldosterone; D008764:Methylmalonic Acid; D012083:Renin